Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51380221G>A , CM000681.2:g.51380221G>A | GRCh38 |
| NC_000019.9:g.51883475G>A , CM000681.1:g.51883475G>A | GRCh37 |
| NC_000019.8:g.56575287G>A | NCBI36 |
| NG_012924.1:g.12736C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001161748.2:c.502C>T MANE Select | NP_001155220.1:p.Arg168Cys |
| ENST00000596399.2:c.502C>T MANE Select | ENSP00000472090.2:p.Arg168Cys |
| NM_001161748.1:c.502C>T | NP_001155220.1:p.Arg168Cys |
| NM_030657.3:c.628C>T | NP_085915.2:p.Arg210Cys |
| NM_030657.4:c.628C>T | NP_085915.2:p.Arg210Cys |
| ENST00000221973.7:c.628C>T | ENSP00000221973.2:p.Arg210Cys |
| ENST00000596399.1:c.502C>T | ENSP00000472090.1:p.Arg168Cys |